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NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) AND Schinzel-Giedion syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003315933.1

Allele description [Variation Report for NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)]

NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)

Gene:
SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.3
Genomic location:
Preferred name:
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr)
Other names:
NM_015559.2(SETBP1):c.3388C>A(p.Pro1130Thr)
HGVS:
  • NC_000018.10:g.44952728C>A
  • NG_027527.2:g.277556C>A
  • NM_015559.3:c.3388C>AMANE SELECT
  • NP_056374.2:p.Pro1130Thr
  • LRG_1150t1:c.3388C>A
  • LRG_1150:g.277556C>A
  • LRG_1150p1:p.Pro1130Thr
  • NC_000018.9:g.42532693C>A
  • NC_000018.9:g.42532693C>A
  • NM_015559.2:c.3388C>A
  • Q9Y6X0:p.Pro1130Thr
Protein change:
P1130T
Links:
UniProtKB: Q9Y6X0#VAR_020317; dbSNP: rs1064204
NCBI 1000 Genomes Browser:
rs1064204
Molecular consequence:
  • NM_015559.3:c.3388C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Schinzel-Giedion syndrome (SGS)
Synonyms:
Schinzel-Giedion midface retraction syndrome
Identifiers:
MONDO: MONDO:0010010; MedGen: C0265227; Orphanet: 798; OMIM: 269150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015431KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015431.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024